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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 11318610 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.